Pkp1
Gene Detail

Symbol Name ID

Pkp1 plakophilin 1 MGI:1328359

Feature Type

protein coding gene

Genetic Map

Chromosome 1

59.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr1:135871395-135919207 bp, - strand From VEGA annotation of GRCm38   47813 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:253  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 2 dog; 1 chicken; 1 zebrafish

Gene Tree: Pkp1

Human homologs

Human Homolog		PKP1, plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
NCBI Gene ID		5317
neXtProt AC		NX_Q13835
Human Synonyms		B6P
Human Chr (Location)		1q32; chr1:201252580-201302121 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PKP1

Alleles and phenotypes

All alleles(4) : Targeted(4)

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	cell adhesion, intermediate filament bundle assembly
Component	cell junction, desmosome, ...
Function	lamin binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (81)    Tissues (15)    Images (22)
Theiler Stages: 23, 25

Assay Type	Results
Immunohistochemistry	2
RNA in situ	79

cDNA source data(50)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(50) cDNA(50)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000022498 (Evidence)
Ensembl Gene Model	ENSMUSG00000026413 (Evidence)
Entrez Gene	18772 (Evidence)
UniGene	4494
DFCI	TC1581735
DoTS	DT.487695
NIA Mouse Gene Index	U021810
Consensus CDS Project	CCDS15322.1
International Mouse Knockout Project Status	Pkp1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022498	VEGA Gene Model | MGI Sequence Detail	47813	C57BL/6J
transcript	OTTMUST00000090231	VEGA | MGI Sequence Detail	3023	Not Applicable
polypeptide	OTTMUSP00000049458	VEGA | MGI Sequence Detail	728	Not Applicable

All sequences(25) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(404 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000225	Armadillo
InterPro	IPR011989	Armadillo-like helical
InterPro	IPR016024	Armadillo-type fold
Protein Ontology	PR:000012790	plakophilin-1

References

(Earliest) J:113690 Hatzfeld M, et al., Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. J Cell Sci. 1994 Aug;107(Pt 8):2259-70
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(36)

Other accession IDs

MGI:2138285